Aliases & Classifications for Human Venous Malformation

MalaCards integrated aliases for Human Venous Malformation:

Name: Human Venous Malformation 38 55
Venous Malformation 29 6
Venous Malformations 37
Malformation Venous 55

External Ids:

KEGG 37 H00531

Summaries for Human Venous Malformation

MalaCards based summary : Human Venous Malformation, also known as venous malformation, is related to glomuvenous malformations and venous malformations, multiple cutaneous and mucosal. An important gene associated with Human Venous Malformation is GLMN (Glomulin, FKBP Associated Protein). Affiliated tissues include Endothelium, smooth muscle and endothelial, and related phenotypes are cardiovascular system and embryo

Related Diseases for Human Venous Malformation

Graphical network of the top 20 diseases related to Human Venous Malformation:



Diseases related to Human Venous Malformation

Symptoms & Phenotypes for Human Venous Malformation

MGI Mouse Phenotypes related to Human Venous Malformation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 CCM2 GLMN KRIT1 PDCD10 TEK
2 embryo MP:0005380 9.72 CCM2 GLMN KRIT1 PDCD10 TEK
3 growth/size/body region MP:0005378 9.65 CCM2 GLMN KRIT1 PDCD10 TEK
4 muscle MP:0005369 9.46 CCM2 KRIT1 PDCD10 TEK
5 nervous system MP:0003631 9.35 CCM2 GLMN KRIT1 PDCD10 TEK
6 vision/eye MP:0005391 8.92 KRIT1 PDCD10 TEK CCM2

Drugs & Therapeutics for Human Venous Malformation

Search Clinical Trials , NIH Clinical Center for Human Venous Malformation

Genetic Tests for Human Venous Malformation

Genetic tests related to Human Venous Malformation:

# Genetic test Affiliating Genes
1 Venous Malformation 29

Anatomical Context for Human Venous Malformation

MalaCards organs/tissues related to Human Venous Malformation:

41
Smooth Muscle, Endothelial
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Human Venous Malformation:
# Tissue Anatomical CompartmentCell Relevance
1 Endothelium Veins Vascular Smooth Muscle Cells Potential therapeutic candidate, affected by disease

Publications for Human Venous Malformation

Articles related to Human Venous Malformation:

# Title Authors Year
1
Pingyangmycin-regulated expressions of adhesion molecules in human venous malformation endothelial cells. ( 23073810 )
2012
2
Isolation, culture and identification of human venous malformation endothelial cells. ( 12411178 )
2002

Variations for Human Venous Malformation

ClinVar genetic disease variations for Human Venous Malformation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh37 Chromosome 7, 73469100: 73469100
2 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh38 Chromosome 7, 74054770: 74054770
3 GLMN NM_053274.2(GLMN): c.108C> A (p.Cys36Ter) single nucleotide variant Pathogenic rs770780171 GRCh37 Chromosome 1, 92763018: 92763018
4 GLMN NM_053274.2(GLMN): c.108C> A (p.Cys36Ter) single nucleotide variant Pathogenic rs770780171 GRCh38 Chromosome 1, 92297461: 92297461
5 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 134812620: 134812620
6 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 137704466: 137704466

Expression for Human Venous Malformation

Search GEO for disease gene expression data for Human Venous Malformation.

Pathways for Human Venous Malformation

GO Terms for Human Venous Malformation

Cellular components related to Human Venous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 8.62 KRIT1 TEK

Biological processes related to Human Venous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of angiogenesis GO:0016525 9.32 KRIT1 TEK
2 vasculogenesis GO:0001570 9.26 CCM2 GLMN
3 negative regulation of endothelial cell apoptotic process GO:2000352 9.16 KRIT1 TEK
4 angiogenesis GO:0001525 9.13 KRIT1 PDCD10 TEK
5 stress fiber assembly GO:0043149 8.62 ELN PDCD10

Sources for Human Venous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....